the brain foundation, a 501c3 non-profit presents

synchrony 2019

International Symposium on Translational Research in Autism

Nov.8-10 Pleasanton, California

attend live or streaming

Registry and Biobank to Enable Subtyping of the Autism Spectrum

We believe that organizing the autism spectrum into biological subtypes will reduce confounding research variables and better address individual needs. 

Our goal is to create a 10,000-person registry of children and adults with ASD, with laboratory, clinical, behavioral and multi-omics data on a large cohort of children and adults with ASD. The registry will store diverse phenotypic data, including completed diagnostic instruments such as the ADI-R, to enable selection of subjects based on symptoms, diagnosis and history. The registry will also have rich clinical data on co-morbid conditions and longitudinal history. 

We will discuss utilizing industry standard EHR partnerships and AI/ML techniques to augment this registry. This roundtable will start with a presentation by Dr. Richard Frye, MD PhD on current initiatives to create a registry and biobank to enable precision medicine in ASD. Participants will discuss next steps including partnership options and funding options. 

Immunology Research in ASD- Gaps and Next Steps

The immune system plays an important role in neurodevelopment, regulating neuronal proliferation, synapse formation and plasticity, as well as removing apoptotic neurons – therefore, it is no surprise that immune dysfunction in ASD has been repeatedly described by many research groups.  Symptoms of immune dysfunction in ASD include neuroinflammation, presence of autoantibodies, increased T cell responses, and enhanced innate NK cell and monocyte immune responses. 

These responses are frequently associated with more impairment in core ASD features, including impaired social interactions, repetitive behaviors and communication. In mouse models, replacing immune components in animals that exhibit autistic relevant features leads to improvement in behavior in these animals. Taken together this research suggests that the immune dysfunction often seen in ASD directly affects aspects of neurodevelopment and neurological processes leading to changes in behavior.  

Given the potential that immunology and neuroimmunology research holds in ASD, there is a surprising dearth of research. The goal of this round table is to identify translational research projects in immunology and neuroimmunology that will remedy this deficit, and shed light on the pathophysiology of ASD.

Neurobehavioral Exacerbations in Autism Spectrum Disorder

A subset of individuals with ASD has been observed to experience acute exacerbations in behavioral symptoms which may include obsessive thoughts, compulsive behaviors, motor or vocal tics, separation anxiety, “anxiety attacks,” irritability, extreme mood swings, temper tantrums, hyperactivity, problems with attention and concentration, handwriting changes, and problems with math, reading and other school subjects. All of these symptoms are either new or much worse than baseline difficulties, and profoundly impact quality of life. 

These resemble what has been described in the literature among non-ASD individuals as “Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS)”, but in ASD, it is apparently not simply a childhood syndrome; it has been observed in children, adolescents and adults. Anecdotally, there seem to be a variety of triggers, including infections and allergies.  In a subset of ASD children and adults, these symptoms are somewhat (but not always) responsive to various treatment modalities – antibiotics, allergy management, IVIG, biologics. There isn’t a great deal of research on this phenomenon in ASD, but it has been variously hypothesized to be an autoimmune encephalopathy or an inflammatory subtype of ASD which implicates the innate immune system. This roundtable will focus on the observed phenomena of neurobehavioral exacerbations in ASD individuals, with the goal of improved diagnostics, differential diagnoses, the role of the gut microbiome and gut-immune-brain interactions. The research roundtable will focus on identifying research topics on the observed phenomenon of neurobehavioral exacerbations in ASD due to a variety of triggers. We will start with case presentations (5 minutes per case) followed by a team discussion on research topics.

MTT (microbiota transplant therapy) in Individuals with ASD + IBD

This roundtable session will explore the feasibility of a clinical trial of MTT in individuals with ASD and Inflammatory Bowel Disease (IBD.)   

We will start with a review of the state of the art in FMT therapy and the benefits of microbiome alteration in ASD. Next, we will discuss gut microbiota structure and function, and the latest results in ASD models. We will also review regulatory processes including FDA requirements for FMT studies. We will then discuss the design of a study of FMT therapy with a small number of ASD subjects with a co-morbid IBD diagnosis. There will be an emphasis on accompanying immunological, metabolic and mitochondrial assays to further our mechanistic understanding of this therapy.  The round table will conclude with a discussion of next steps. 

Standard of Care in ASD- Gaps and Next Steps

We currently lack a robust Standard Of Care (SOC) or consensus clinical practice guidelines for medical co-morbidities in children and adults with ASD.  Children and adults on the autism spectrum have an increased rate of medical co-morbidities. Many cannot communicate or adequately advocate for themselves, making these conditions hard to diagnose. The result:  lower quality of life, increased mortality risk, impaired ability to participate in education, employment, and activities of daily living. Given these facts, there is a need for proactive medical care for children and adults with autism.  This round table will discuss the gaps in standard of care in ASD and formulate a working group to continue this discussion and define deliverables and initiatives to help close the gap.

ER Protocols for ASD- Gaps and Next Steps

Pain and distress in acute medical situations requiring ER visits can manifest as behaviors in children and adults with ASD and make diagnosis challenging. Further, individuals with ASD may have difficulties with the sensory demands of the ER environment. This round table will include families of children and adults with ASD as well as ER staff and other clinicians at several Bay Area hospitals.

The goal will be to identify what can be done to minimize discomfort for individuals with ASD and make ER visits more effective.